ClinVar Miner

Variants from Undiagnosed Diseases Network,NIH

Location: United States — Primary collection method: clinical testing
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
112 75 60 0 0 247

Gene and significance breakdown #

Total genes and gene combinations: 183
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
IRF2BPL 0 5 0 5
MIPEP 1 2 1 4
POLG 2 0 2 4
ALG1 0 3 0 3
LAMA1 1 1 1 3
MECP2 3 0 0 3
NPHP3-ACAD11, UBA5 1 1 1 3
SLC20A2 3 0 0 3
ABCA2 0 0 2 2
AGTPBP1 2 0 0 2
ARID1B 1 1 0 2
CACNA1A 0 2 0 2
CAPN1 0 1 1 2
CLASP1, RNU4ATAC 1 1 0 2
COL6A1 1 1 0 2
COL7A1 2 0 0 2
DNAH11 1 0 1 2
DYNC1H1 1 1 0 2
FAT4 0 0 2 2
GH-LCR, SCN4A 2 0 0 2
GLYR1 0 0 2 2
HGSNAT 0 0 2 2
IGHMBP2 1 0 1 2
IQCB1 2 0 0 2
KCTD7 0 2 0 2
LZTR1 1 0 1 2
MECR 1 0 1 2
MPV17 1 1 0 2
MSTO1 0 2 0 2
MTHFS, ST20-MTHFS 0 0 2 2
NAGLU 2 0 0 2
NRXN1 0 0 2 2
OTUD4 0 0 2 2
PEX11B 2 0 0 2
PEX6 0 2 0 2
PIEZO2 1 1 0 2
PRNP 0 0 2 2
RARS2 2 0 0 2
ROGDI 2 0 0 2
SEPSECS 1 1 0 2
SLC52A3 0 0 2 2
SNAPC4 0 0 2 2
SNORD118, TMEM107 0 0 2 2
SPATA5 0 2 0 2
SPG11 2 0 0 2
SPG7 2 0 0 2
TANGO2 2 0 0 2
TMEM94 2 0 0 2
TOR1AIP1 0 1 1 2
TRIP11 2 0 0 2
TSPEAR 0 2 0 2
VARS2 0 0 2 2
ABCD1 0 1 0 1
ACOX1 0 0 1 1
ADNP 1 0 0 1
ADSSL1 1 0 0 1
AFG3L2 1 0 0 1
AHCYL1, AKNAD1, ALX3, AMIGO1, AMPD2, ATXN7L2, C1orf194, CELSR2, CLCC1, CSF1, CYB561D1, EPS8L3, FAM102B, FNDC7, GNAI3, GNAT2, GPR61, GPSM2, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, HENMT1, KCNA10, KCNA2, KCNC4, KIAA1324, LAMTOR5, MIR197, MYBPHL, NBPF4, NBPF6, NTNG1, PROK1, PRPF38B, PSMA5, PSRC1, RBM15, SARS, SLC16A4, SLC25A24, SLC6A17, SORT1, STRIP1, STXBP3, SYPL2, TAF13, TMEM167B, UBL4B, VAV3, WDR47 0 1 0 1
AIFM1, RAB33A 0 0 1 1
ALDH18A1 1 0 0 1
ALG13 1 0 0 1
ANTXR2 1 0 0 1
ARMC5, BCKDK, BCL7C, C16orf58, CCDC189, COX6A2, CTF1, FBRS, FBXL19, FUS, HSD3B7, ITGAD, ITGAM, ITGAX, KAT8, ORAI3, PHKG2, PRR14, PRSS36, PRSS53, PRSS8, PYCARD, PYDC1, RNF40, SETD1A, SLC5A2, SRCAP, STX1B, STX4, TGFB1I1, TRIM72, VKORC1, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF764, ZNF785, ZNF843 0 0 1 1
ARV1 0 0 1 1
ASPA, CTNS, EMC6, HASPIN, ITGAE, P2RX5, SHPK, TAX1BP3, TRPV1, TRPV3 0 1 0 1
ASXL1 1 0 0 1
ASXL2 1 0 0 1
ASXL3 1 0 0 1
ATP1A3 1 0 0 1
ATP5F1D 1 0 0 1
ATP6V1A 0 1 0 1
AUTS2 0 1 0 1
BCKDK 0 0 1 1
BRAF 0 1 0 1
CACNA1C 0 1 0 1
CAMK2B 1 0 0 1
CATSPER2, CKMT1B, STRC 1 0 0 1
CDK13 0 1 0 1
CDKL5 1 0 0 1
CDRT1, CDRT15, CDRT4, COX10, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 1
CNTNAP1 0 1 0 1
COG4 1 0 0 1
COL2A1 1 0 0 1
CTNNB1 0 1 0 1
DDX3X 0 1 0 1
DES 1 0 0 1
DYRK1A 1 0 0 1
EBF3 1 0 0 1
EED 0 1 0 1
EEF1A2 1 0 0 1
EFL1 0 1 0 1
EFTUD2 1 0 0 1
EHMT1 0 1 0 1
ENG 1 0 0 1
EVI5 0 0 1 1
FA2H 0 1 0 1
FAS 0 1 0 1
FBN1 1 0 0 1
FGF12 0 1 0 1
FKRP 1 0 0 1
FKRP, STRN4 1 0 0 1
FOXG1 1 0 0 1
GABRB2 0 1 0 1
GABRG2 1 0 0 1
GATAD2B 1 0 0 1
GCH1 0 0 1 1
GDF11 0 0 1 1
GFAP 0 0 1 1
GJB2 1 0 0 1
GNAO1 0 1 0 1
GNAQ 1 0 0 1
GNAS 0 0 1 1
GRIN2A 0 1 0 1
H3F3A 0 1 0 1
HDAC8, PHKA1 1 0 0 1
HECW2 0 0 1 1
HEPACAM 0 0 1 1
HNRNPK 0 1 0 1
HSPB8 0 1 0 1
HUWE1 1 0 0 1
JAG1 1 0 0 1
KCNC1 1 0 0 1
KCNMA1 1 0 0 1
KIF2A 0 1 0 1
KMT2A 1 0 0 1
KMT2B 0 1 0 1
LOC112695092, PLA2G6 1 0 0 1
LRSAM1, NIBAN2, STXBP1 1 0 0 1
MAGEL2 1 0 0 1
MALL, MTLN, NPHP1 1 0 0 1
MAPK8IP3 0 1 0 1
MEF2C 1 0 0 1
MTOR 1 0 0 1
MYBPC1 0 1 0 1
NACC1 1 0 0 1
NADK2 0 0 1 1
NLRP12 0 0 1 1
NLRP3 0 0 1 1
NR2F2 0 0 1 1
NR5A1 0 0 1 1
P2RX5-TAX1BP3, TAX1BP3 0 1 0 1
PKD1 0 0 1 1
PLA2G6 0 1 0 1
PMP22 0 0 1 1
POMP 1 0 0 1
PPP3CA 1 0 0 1
PRELP 0 0 1 1
PSEN1 0 1 0 1
PTCH1 1 0 0 1
PTPN11 1 0 0 1
PURA 0 1 0 1
PYROXD1 1 0 0 1
QRICH1 1 0 0 1
RAD51 0 1 0 1
RAI1 1 0 0 1
RERE 0 1 0 1
RNASEH2A 0 0 1 1
RPS6KA3 0 1 0 1
SCARB2 1 0 0 1
SCN1A 1 0 0 1
SCN2A 1 0 0 1
SDHD 0 0 1 1
SLC25A42 0 1 0 1
SLC35A2 0 0 1 1
SMARCC2 0 0 1 1
SOX11 0 1 0 1
SPI1 0 0 1 1
SRCAP 1 0 0 1
STIM1 0 1 0 1
SYNE1 1 0 0 1
SYNGAP1 1 0 0 1
TBCK 1 0 0 1
TBX2 1 0 0 1
TRAF7 1 0 0 1
TRIM8 0 1 0 1
TRIP12 1 0 0 1
TUBB4A 0 1 0 1
UNC80 0 1 0 1
USP7 0 1 0 1
WAC 1 0 0 1
ZC4H2 1 0 0 1
ZMPSTE24 1 0 0 1
ZNF292 0 1 0 1

Condition and significance breakdown #

Total conditions: 183
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Condition pathogenic likely pathogenic uncertain significance total
IRF2BPL-related condition 0 5 0 5
Combined oxidative phosphorylation deficiency 31 1 2 1 4
Congenital disorder of glycosylation type 1K 0 3 0 3
Idiopathic basal ganglia calcification 1 3 0 0 3
Poretti-Boltshauser syndrome 1 1 1 3
Rett syndrome 3 0 0 3
not specified 1 0 2 3
ABCA2-related condition 0 0 2 2
AGTPBP1-related condition 2 0 0 2
Arthrogryposis, distal, with impaired proprioception and touch 1 1 0 2
Autosomal recessive Noonan-like syndrome due to compound heterozygous variants in LZTR1 1 0 1 2
Bethlem myopathy 1 1 1 0 2
Branched-chain keto acid dehydrogenase kinase deficiency 0 0 2 2
Brown-Vialetto-Van Laere syndrome 1 0 0 2 2
Ciliary dyskinesia, primary, 7 1 0 1 2
Coffin-Siris syndrome 1 1 1 0 2
Combined oxidative phosphorylation deficiency 20 0 0 2 2
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 1 0 1 2
Epilepsy, hearing loss, and mental retardation syndrome 0 2 0 2
Epilepsy, progressive myoclonic 3 0 2 0 2
Epileptic encephalopathy, early infantile, 44 1 0 1 2
Epileptic encephalopathy, early infantile, 44; Spinocerebellar ataxia, autosomal recessive 24 1 1 0 2
GLYR1-related condition 0 0 2 2
IGHMBP2-related condition 1 0 1 2
Infantile neuroaxonal dystrophy 1 1 0 2
Kohlschutter's syndrome 2 0 0 2
Leukoencephalopathy, brain calcifications, and cysts 0 0 2 2
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2 0 0 2
METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION 2 0 0 2
MPV17-related mitochondrial DNA maintenance defect 1 1 0 2
MTHFS-related condition 0 0 2 2
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 0 2 0 2
Mitochondrial DNA depletion syndrome; Primary progressive multiple sclerosis 0 0 2 2
Mucopolysaccharidosis, MPS-III-B 2 0 0 2
Mucopolysaccharidosis, MPS-III-C 0 0 2 2
Muscular Diseases 2 0 0 2
Muscular dystrophy, limb-girdle, type 2y 0 1 1 2
Peroxisome biogenesis disorder 14B 2 0 0 2
Peroxisome biogenesis disorder 4B 0 2 0 2
Pitt-Hopkins-like syndrome 2 0 0 2 2
Pontocerebellar hypoplasia type 2D 1 1 0 2
Pontocerebellar hypoplasia type 6 2 0 0 2
Progressive sclerosing poliodystrophy 2 0 0 2
Recessive dystrophic epidermolysis bullosa 2 0 0 2
Roifman syndrome 1 1 0 2
SNAPC4-associated inflammatory disease 0 0 2 2
Senior-Loken syndrome 5 2 0 0 2
Spastic paraplegia 11, autosomal recessive 2 0 0 2
Spastic paraplegia 7 2 0 0 2
Spastic paraplegia 76, autosomal recessive 0 1 1 2
Spongiform encephalopathy with neuropsychiatric features 0 0 2 2
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 2 0 2
TMEM94-related condition 2 0 0 2
TRIP11-related condition 2 0 0 2
TSPEAR-related disorder of tooth and hair follicle morphogenesis 0 2 0 2
Van Maldergem syndrome 2 0 0 2 2
1p13.3 deletion syndrome 0 1 0 1
2,4-Dienoyl-CoA reductase deficiency 0 0 1 1
46,XX sex reversal 4 0 0 1 1
ACOX1-related condition 0 0 1 1
AIFM1-related hypomyelination with spondylometaphyseal dysplasia 0 0 1 1
AU-KLINE SYNDROME 0 1 0 1
Adrenoleukodystrophy 0 1 0 1
Aicardi Goutieres syndrome 4 0 0 1 1
Alagille syndrome 1 1 0 0 1
Alexander Disease 0 0 1 1
Alternating hemiplegia of childhood 2 1 0 0 1
Alzheimer disease, type 3 0 1 0 1
Autoimmune lymphoproliferative syndrome 0 1 0 1
Bainbridge-Ropers syndrome 1 0 0 1
C-like syndrome 1 0 0 1
CACNA1A-related condition 0 1 0 1
CACNA1C-related condition 0 1 0 1
COG4 related congenital disorder of glycosylation, autosomal dominant 1 0 0 1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm 0 0 1 1
Capillary malformation; Sturge-Weber syndrome 1 0 0 1
Cardiofaciocutaneous syndrome 1 0 1 0 1
Cerebellar ataxia; Intellectual disability; Cerebellar atrophy 0 1 0 1
Charcot-Marie-Tooth disease, type IA 1 0 0 1
Chromosome 9q deletion syndrome 0 1 0 1
Coffin-Lowry syndrome 0 1 0 1
Cohen-Gibson syndrome 0 1 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 0 1
Congenital heart defects, multiple types, 4 0 0 1 1
Cornelia de Lange syndrome 5 1 0 0 1
Cortical dysplasia, complex, with other brain malformations 3 0 1 0 1
Deafness, autosomal recessive 1A 1 0 0 1
Deafness-infertility syndrome 1 0 0 1
Decreased activity of mitochondrial ATP synthase complex 1 0 0 1
Desanto-shinawi syndrome 1 0 0 1
Distal myopathy; Motor neuropathy 0 1 0 1
Dystonia 28, childhood-onset 0 1 0 1
Dystonia 5, Dopa-responsive type 0 0 1 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 1 0 0 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 0 1 0 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 0 1 0 1
EVI5-related condition 0 0 1 1
Early infantile epileptic encephalopathy 2 1 0 0 1
Early infantile epileptic encephalopathy 4 1 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 1 0 1
Epilepsy, progressive myoclonic 4, with or without renal failure 1 0 0 1
Epilepsy, progressive myoclonic 7 1 0 0 1
Epileptic encephalopathy, early infantile, 33 1 0 0 1
Epileptic encephalopathy, early infantile, 36 1 0 0 1
Epileptic encephalopathy, early infantile, 38 0 0 1 1
Epileptic encephalopathy, early infantile, 47 0 1 0 1
Familial cold autoinflammatory syndrome 2 0 0 1 1
Familial cold urticaria 0 0 1 1
Fanconi anemia, complementation group R 0 1 0 1
Floating-Harbor syndrome 1 0 0 1
GDF11-associated multiple congenital anomalies and ID 0 0 1 1
Generalized epilepsy and paroxysmal dyskinesia 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 1 0 0 1
Gorlin syndrome 1 0 0 1
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 1 0 0 1
H3F3A-related condition 0 1 0 1
Helsmoortel-van der aa syndrome 1 0 0 1
Hereditary liability to pressure palsies 0 0 1 1
Hyaline fibromatosis syndrome 1 0 0 1
Hypotonia, ataxia, and delayed development syndrome 1 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 0 0 1
Lethal congenital contracture syndrome 7 0 1 0 1
Lethal tight skin contracture syndrome 1 0 0 1
Leukodystrophy, hypomyelinating, 6 0 1 0 1
MAPK8IP3-related disorder 0 1 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 1 0 0 1
MTOR-related megalencephaly and pigmentary mosaicism in skin 1 0 0 1
MYBPC1-related condition 0 1 0 1
Marfan syndrome 1 0 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 0 0 1 1
Mental retardation, X-linked 102 0 1 0 1
Mental retardation, X-linked, syndromic, Turner type 1 0 0 1
Mental retardation, autosomal dominant 13 0 1 0 1
Mental retardation, autosomal dominant 18 1 0 0 1
Mental retardation, autosomal dominant 19 0 1 0 1
Mental retardation, autosomal dominant 26 0 1 0 1
Mental retardation, autosomal dominant 27 0 1 0 1
Mental retardation, autosomal dominant 31 0 1 0 1
Mental retardation, autosomal dominant 5 1 0 0 1
Mental retardation, autosomal dominant 7 1 0 0 1
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 1 0 0 1
Myofibrillar myopathy 1 1 0 0 1
Myopathy, distal, 5 1 0 0 1
Myopathy, myofibrillar, 8 1 0 0 1
Nephronophthisis 1; Senior-Loken syndrome 3 1 0 0 1
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 1 0 0 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 1 1
Neurodevelopmental disorder with involuntary movements 0 1 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 1 0 1
Noonan syndrome 1 1 0 0 1
POLG-related condition 1 0 0 1
POMP-related condition 1 0 0 1
PRELP-related osteosclerosis 0 0 1 1
Paragangliomas 1 0 0 1 1
Polycystic kidney disease, adult type 0 0 1 1
Pseudopseudohypoparathyroidism 0 0 1 1
Rett syndrome, congenital variant 1 0 0 1
SCN2A-related condition 1 0 0 1
SLC25A42-related mitochondrial encephalomyopathy 0 1 0 1
SMARCC2-related condition 0 0 1 1
SPI1-related eosinophilia syndrome 0 0 1 1
Schaaf-yang syndrome 1 0 0 1
Shashi-Pena syndrome 1 0 0 1
Shwachman-Diamond-like syndrome 0 1 0 1
Smith-Magenis syndrome 1 0 0 1
Spastic paraplegia 35 0 1 0 1
Spastic paraplegia 9 1 0 0 1
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant 1 0 0 1
Spinocerebellar ataxia 28 1 0 0 1
Spinocerebellar ataxia, autosomal recessive 8 1 0 0 1
Stickler syndrome type 1 1 0 0 1
Stormorken syndrome 0 1 0 1
Systemic lupus erythematosus; Osler hemorrhagic telangiectasia syndrome 1 0 0 1
TBX2-related condition 1 0 0 1
TRAF7-related developmental delay, congenital anomalies, and dysmorphic features 1 0 0 1
TRIM8-related epileptic encephalopathy 0 1 0 1
TRIP12 associated autism with facial dysmorphology 1 0 0 1
USP7-related condition 0 1 0 1
VERVERI-BRADY SYNDROME 1 0 0 1
Wieacker Wolff syndrome 1 0 0 1
Wiedemann-Steiner syndrome 1 0 0 1
ZNF292-related neurodevelopmental condition 0 1 0 1

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